FUS as a cause of familial Amyotrophic lateral sclerosis, a case report in a pregnant patient.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. In 10% the disease is familial and rarely occurs in childbearing age women. A 28-year-old female pregnancy patient presented a two-month history of dropped head syndrome, dysphagia, muscle weakness, atrophy, and lingual wasting. Electromyography supported the diagnosis of ALS. Due to family history and background, we carried out molecular genetic testing. We identified a novel variant of uncertain significance: c. 1566 G > C (p.Arg522Ser) in exon 15 in FUS gene. Our findings provide the first case of ALS onset during pregnancy with a novel mutation in FUS gene reported in Mexico.

Conditional content, explicit information and generating cases: Sources for suppressing inferences.

In the present study, we evaluate the suppression effect by asking participants to make inferences with everyday conditionals ("if A, then B"; "if Ana finds a friend, then she will go to the theatre"), choosing between three possible conclusions ("she went to the theatre"; "she did not go to the theatre"; "it cannot be concluded"). We test how these inferences can be influenced by three factors: a) when the content of the conditional induces us to think about disabling conditions that prevent us from accepting the consequent (A and ¬B) or alternative conditions that induce us to think about other antecedents that could also lead to the consequent (¬A and B), b) when explicit information is given about what really happened (e.g. Ana found a friend but they did not go to the theatre; or Ana did not find a friend but she went to the theatre) and c) when participants have to look for concrete disabling (e.g. Ana's friend had to work) and alternative cases (e.g. Ana's sister wanted to go to the theatre) before making the inferences. Previous studies have shown what were called "suppression effects": disabling conditions reduced valid inferences while considering alternatives led to a reduction in fallacies. These two "suppression effects" were shown in Experiment 1: a) in an Implicit condition that included just the content factor of the conditional and b) with a greater magnitude in a second Explicit condition that included the three factors (content, explicit information and search for counterexamples). Experiment 2 compared the same Explicit condition with another in which participants, instead of looking for counterexamples, completed a control task of looking for synonyms. In addition, half the participants looked for a few items (2 cases) and the other half for many items (5 cases). Results again showed the suppressing effect in all the conditions, but the magnitude was greater in the counterexample condition. No relevant differences were obtained according to the number of cases generated; the most relevant result was that the factors provided an additive effect on the suppression.

How children and adults keep track of real information when thinking counterfactually.

Thinking about counterfactual conditionals such as "if she had not painted the sheet of paper, it would have been blank" requires us to consider what is conjectured (She did not paint and the sheet was blank) and what actually happened (She painted and the sheet was not blank). In two experiments with adults (Study 1) and schoolchildren from 7 to 13 years (Study 2), we tested three potential sources of difficulty with counterfactuals: inferring, distinguishing what is real vs conjectured (epistemic status) and comprehending linguistic conditional expressions ("if" vs "even if"). The results showed that neither adults nor schoolchildren had difficulty in the comprehension of counterfactual expressions such as "even if" with respect to "if then". The ability to infer with both of these develops during school years, with adults showing great ability. However, the third source factor is critical: we found that the key to young children's difficulty with counterfactual thinking was their inability to differentiate real and conjectured information, while adults showed little difficulty with this.

Low-dose-rate brachytherapy for patients with transurethral resection before implantation in prostate cancer. Longterm results.

OBJECTIVES: We analyzed the long-term oncologic outcome for patients with prostate cancer and transurethral resection who were treated using low-dose-rate (LDR) prostate brachytherapy. METHODS AND MATERIALS: From January 2001 to December 2005, 57 consecutive patients were treated with clinically localized prostate cancer. No patients received external beam radiation. All of them underwent LDR prostate brachytherapy. Biochemical failure was defined according to the "Phoenix consensus". Patients were stratified as low and intermediate risk based on The Memorial Sloan Kettering group definition. RESULTS: The median follow-up time for these 57 patients was 104 months. The overall survival according to Kaplan-Meier estimates was 88% (±6%) at 5 years and 77% (±6%) at 12 years. The 5 and 10 years for failure in tumour-free survival (TFS) was 96% and respectively (±2%), whereas for biochemical control was 94% and respectively (±3%) at 5 and 10 years, 98% (±1%) of patients being free of local recurrence. A patient reported incontinence after treatment (1.7%). The chronic genitourinary complains grade I were 7% and grade II, 10%. At six months 94% of patients reported no change in bowel function. CONCLUSIONS: The excellent long-term results and low morbidity presented, as well as the many advantages of prostate brachytherapy over other treatments, demonstrates that brachytherapy is an effective treatment for patients with transurethral resection and clinical organ-confined prostate cancer.

Influence of PEEK Coating on Hip Implant Stress Shielding: A Finite Element Analysis.

Stress shielding is a well-known failure factor in hip implants. This work proposes a design concept for hip implants, using a combination of metallic stem with a polymer coating (polyether ether ketone (PEEK)). The proposed design concept is simulated using titanium alloy stems and PEEK coatings with thicknesses varying from 100 to 400 µm. The Finite Element analysis of the cancellous bone surrounding the implant shows promising results. The effective von Mises stress increases between 81 and 92% for the complete volume of cancellous bone. When focusing on the proximal zone of the implant, the increased stress transmission to the cancellous bone reaches between 47 and 60%. This increment in load transferred to the bone can influence mineral bone loss due to stress shielding, minimizing such effect, and thus prolonging implant lifespan.

Low-dose-rate brachytherapy for patients with transurethral resection before implantation in prostate cancer. Long-term results

ABSTRACT We analyzed the long-term oncologic outcome for patients with prostate cancer and transurethral resection who were treated using low-dose-rate (LDR) prostate brachytherapy. Methods and Materials: From January 2001 to December 2005, 57 consecutive patients were treated with clinically localized prostate cancer. No patients received external beam radiation. All of them underwent LDR prostate brachytherapy. Biochemical failure was defined according to the "Phoenix consensus". Patients were stratified as low and intermediate risk based on The Memorial Sloan Kettering group definition. Results: The median follow-up time for these 57 patients was 104 months. The overall survival according to Kaplan-Meier estimates was 88% (±6%) at 5 years and 77% (±6%) at 12 years. The 5 and 10 years for failure in tumour-free survival (TFS) was 96% and respectively (±2%), whereas for biochemical control was 94% and respectively (±3%) at 5 and 10 years, 98% (±1%) of patients being free of local recurrence. A patient reported incontinence after treatment (1.7%). The chronic genitourinary complains grade I were 7% and grade II, 10%. At six months 94% of patients reported no change in bowel function.Conclusions: The excellent long-term results and low morbidity presented, as well as the many advantages of prostate brachytherapy over other treatments, demonstrates that brachytherapy is an effective treatment for patients with transurethral resection and clinical organ-confined prostate cancer